ClinVar Miner

List of variants in gene PKLR reported as likely pathogenic for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) rs776594413 0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn) rs747097960
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) rs752423472
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser) rs1674554041
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) rs2148218886
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.754G>A (p.Val252Met)
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)

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